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KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation.
Pearce LR, Atanassova N, Banton MC, Bottomley B, van der Klaauw AA, Revelli JP, Hendricks A, Keogh JM, Henning E, Doree D, Jeter-Jones S, Garg S, Bochukova EG, Bounds R, Ashford S, Gayton E, Hindmarsh PC, Shield JP, Crowne E, Barford D, Wareham NJ; UK10K consortium; O'Rahilly S, Murphy MP, Powell DR, Barroso I, Farooqi IS. Pearce LR, et al. Among authors: barroso i. Cell. 2013 Nov 7;155(4):765-77. doi: 10.1016/j.cell.2013.09.058. Cell. 2013. PMID: 24209692 Free PMC article.
A family with severe insulin resistance and diabetes due to a mutation in AKT2.
George S, Rochford JJ, Wolfrum C, Gray SL, Schinner S, Wilson JC, Soos MA, Murgatroyd PR, Williams RM, Acerini CL, Dunger DB, Barford D, Umpleby AM, Wareham NJ, Davies HA, Schafer AJ, Stoffel M, O'Rahilly S, Barroso I. George S, et al. Among authors: barroso i. Science. 2004 May 28;304(5675):1325-8. doi: 10.1126/science.1096706. Science. 2004. PMID: 15166380 Free PMC article.
Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance.
Agostini M, Schoenmakers E, Mitchell C, Szatmari I, Savage D, Smith A, Rajanayagam O, Semple R, Luan J, Bath L, Zalin A, Labib M, Kumar S, Simpson H, Blom D, Marais D, Schwabe J, Barroso I, Trembath R, Wareham N, Nagy L, Gurnell M, O'Rahilly S, Chatterjee K. Agostini M, et al. Among authors: barroso i. Cell Metab. 2006 Oct;4(4):303-11. doi: 10.1016/j.cmet.2006.09.003. Cell Metab. 2006. PMID: 17011503 Free PMC article.
PARL Leu262Val is not associated with fasting insulin levels in UK populations.
Fawcett KA, Wareham NJ, Luan J, Syddall H, Cooper C, O'Rahilly S, Day IN, Sandhu MS, Barroso I. Fawcett KA, et al. Among authors: barroso i. Diabetologia. 2006 Nov;49(11):2649-52. doi: 10.1007/s00125-006-0443-9. Epub 2006 Sep 21. Diabetologia. 2006. PMID: 17019603 Free PMC article.
412 results